Incidental Mutation 'R1025:Vmn1r17'
| ID |
94877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r17
|
| Ensembl Gene |
ENSMUSG00000115644 |
| Gene Name |
vomeronasal 1 receptor 17 |
| Synonyms |
V1rc16 |
| MMRRC Submission |
039127-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.218)
|
| Stock # |
R1025 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
57337452-57338363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57338240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 42
(S42T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176395]
[ENSMUST00000227186]
[ENSMUST00000227966]
[ENSMUST00000228156]
[ENSMUST00000228294]
[ENSMUST00000228342]
|
| AlphaFold |
Q8R2D8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176395
AA Change: S42T
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000135746
Gene: ENSMUSG00000093411
AA Change: S42T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
1.4e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227186
AA Change: S42T
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227966
AA Change: S42T
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228156
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228294
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228342
AA Change: S42T
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
A |
T |
17: 48,401,030 (GRCm39) |
K105M |
probably damaging |
Het |
| 3110009E18Rik |
C |
T |
1: 120,099,192 (GRCm39) |
T95I |
probably damaging |
Het |
| Acte1 |
A |
G |
7: 143,450,127 (GRCm39) |
Y291C |
probably damaging |
Het |
| Alyref |
C |
G |
11: 120,486,758 (GRCm39) |
V168L |
probably damaging |
Het |
| Ap1g1 |
G |
A |
8: 110,545,571 (GRCm39) |
A75T |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,792,826 (GRCm39) |
N434S |
probably benign |
Het |
| Cebpzos |
A |
G |
17: 79,225,817 (GRCm39) |
K11E |
probably damaging |
Het |
| Cers1 |
A |
T |
8: 70,774,186 (GRCm39) |
I148F |
probably benign |
Het |
| Cpne4 |
A |
T |
9: 104,871,057 (GRCm39) |
I300F |
possibly damaging |
Het |
| Fsip2 |
C |
A |
2: 82,819,780 (GRCm39) |
S5171* |
probably null |
Het |
| Gabra2 |
T |
C |
5: 71,130,938 (GRCm39) |
S297G |
probably damaging |
Het |
| Irak3 |
A |
T |
10: 120,012,251 (GRCm39) |
I171N |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,059,893 (GRCm39) |
I661V |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,609 (GRCm39) |
D2384G |
probably damaging |
Het |
| Or14a260 |
T |
C |
7: 85,985,113 (GRCm39) |
M164V |
probably benign |
Het |
| Or6b2b |
T |
A |
1: 92,419,445 (GRCm39) |
T11S |
probably benign |
Het |
| Pdcd6ip |
G |
A |
9: 113,491,354 (GRCm39) |
L630F |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,527,326 (GRCm39) |
|
probably null |
Het |
| Slc26a4 |
T |
G |
12: 31,578,736 (GRCm39) |
D639A |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,087,817 (GRCm39) |
C1754Y |
possibly damaging |
Het |
| Trpa1 |
C |
A |
1: 14,974,407 (GRCm39) |
M258I |
probably benign |
Het |
| Vmn2r57 |
A |
G |
7: 41,077,228 (GRCm39) |
F313L |
probably benign |
Het |
| Zfp811 |
A |
G |
17: 33,017,618 (GRCm39) |
Y140H |
probably benign |
Het |
|
| Other mutations in Vmn1r17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00943:Vmn1r17
|
APN |
6 |
57,338,185 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02073:Vmn1r17
|
APN |
6 |
57,337,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03117:Vmn1r17
|
APN |
6 |
57,337,501 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03168:Vmn1r17
|
APN |
6 |
57,337,583 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0472:Vmn1r17
|
UTSW |
6 |
57,338,304 (GRCm39) |
missense |
probably benign |
|
|
R0590:Vmn1r17
|
UTSW |
6 |
57,337,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0648:Vmn1r17
|
UTSW |
6 |
57,337,460 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1545:Vmn1r17
|
UTSW |
6 |
57,338,317 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2035:Vmn1r17
|
UTSW |
6 |
57,337,573 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2507:Vmn1r17
|
UTSW |
6 |
57,338,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2508:Vmn1r17
|
UTSW |
6 |
57,337,855 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3084:Vmn1r17
|
UTSW |
6 |
57,337,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3688:Vmn1r17
|
UTSW |
6 |
57,337,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3696:Vmn1r17
|
UTSW |
6 |
57,337,523 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4436:Vmn1r17
|
UTSW |
6 |
57,337,719 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4741:Vmn1r17
|
UTSW |
6 |
57,338,337 (GRCm39) |
nonsense |
probably null |
|
|
R4989:Vmn1r17
|
UTSW |
6 |
57,337,460 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5013:Vmn1r17
|
UTSW |
6 |
57,337,828 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5133:Vmn1r17
|
UTSW |
6 |
57,337,828 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5134:Vmn1r17
|
UTSW |
6 |
57,337,828 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5162:Vmn1r17
|
UTSW |
6 |
57,337,828 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5184:Vmn1r17
|
UTSW |
6 |
57,337,828 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5185:Vmn1r17
|
UTSW |
6 |
57,337,828 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5831:Vmn1r17
|
UTSW |
6 |
57,337,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6487:Vmn1r17
|
UTSW |
6 |
57,338,209 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7436:Vmn1r17
|
UTSW |
6 |
57,337,862 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7600:Vmn1r17
|
UTSW |
6 |
57,337,906 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8944:Vmn1r17
|
UTSW |
6 |
57,338,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATAGTGACAGCCTGGAACACACTC -3'
(R):5'- TCTGTGCTCACCATGACTGTTTGTATG -3'
Sequencing Primer
(F):5'- CTGGAACACACTCAGGAGGC -3'
(R):5'- GCATATACAATGCAGGCTATGATG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation